Multiple Endocrine Neoplasia Type 1 with Functional Parathyroid Cysts

A 51-year-old woman was admitted because of hypercalcemia. Neck ultrasonography and computed tomography revealed the presence of parathyroid cysts on both sides. After primary hyperparathyroidism was diagnosed by technetium-99m-methoxyisobutylisonitrile scintigraphy, the patient was successfully tre...

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Autores principales: Koyama, Nobuyuki, Nagase, Terumasa, Kure, Masahiko, Odaka, Tomotada, Kogure, Koichiro, Takeda, Yukihisa, Ishii, Tomoya, Narisawa, Kenichiro, Fujita, Tomoyuki, Fujimori, Minoru, Katsura, Yoshiya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9107977/
https://www.ncbi.nlm.nih.gov/pubmed/34645755
http://dx.doi.org/10.2169/internalmedicine.7505-21
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author Koyama, Nobuyuki
Nagase, Terumasa
Kure, Masahiko
Odaka, Tomotada
Kogure, Koichiro
Takeda, Yukihisa
Ishii, Tomoya
Narisawa, Kenichiro
Fujita, Tomoyuki
Fujimori, Minoru
Katsura, Yoshiya
author_facet Koyama, Nobuyuki
Nagase, Terumasa
Kure, Masahiko
Odaka, Tomotada
Kogure, Koichiro
Takeda, Yukihisa
Ishii, Tomoya
Narisawa, Kenichiro
Fujita, Tomoyuki
Fujimori, Minoru
Katsura, Yoshiya
author_sort Koyama, Nobuyuki
collection PubMed
description A 51-year-old woman was admitted because of hypercalcemia. Neck ultrasonography and computed tomography revealed the presence of parathyroid cysts on both sides. After primary hyperparathyroidism was diagnosed by technetium-99m-methoxyisobutylisonitrile scintigraphy, the patient was successfully treated with total parathyroidectomy and autotransplantation. She also had a non-functioning pancreatic neuroendocrine tumor, prolactinoma, and adrenal tumors with subclinical Cushing's syndrome. Given these clinical features and her family history, multiple endocrine neoplasia type 1 (MEN1) was suspected, and germline DNA sequencing revealed a missense mutation (c.1013T＞G, p.Leu338Pro) in exon 7 of MEN1. This case demonstrates the phenotypic and genetic diversity of MEN1.
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spelling pubmed-91079772022-05-27 Multiple Endocrine Neoplasia Type 1 with Functional Parathyroid Cysts Koyama, Nobuyuki Nagase, Terumasa Kure, Masahiko Odaka, Tomotada Kogure, Koichiro Takeda, Yukihisa Ishii, Tomoya Narisawa, Kenichiro Fujita, Tomoyuki Fujimori, Minoru Katsura, Yoshiya Intern Med Case Report A 51-year-old woman was admitted because of hypercalcemia. Neck ultrasonography and computed tomography revealed the presence of parathyroid cysts on both sides. After primary hyperparathyroidism was diagnosed by technetium-99m-methoxyisobutylisonitrile scintigraphy, the patient was successfully treated with total parathyroidectomy and autotransplantation. She also had a non-functioning pancreatic neuroendocrine tumor, prolactinoma, and adrenal tumors with subclinical Cushing's syndrome. Given these clinical features and her family history, multiple endocrine neoplasia type 1 (MEN1) was suspected, and germline DNA sequencing revealed a missense mutation (c.1013T＞G, p.Leu338Pro) in exon 7 of MEN1. This case demonstrates the phenotypic and genetic diversity of MEN1. The Japanese Society of Internal Medicine 2021-10-12 2022-04-15 /pmc/articles/PMC9107977/ /pubmed/34645755 http://dx.doi.org/10.2169/internalmedicine.7505-21 Text en Copyright © 2022 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/The Internal Medicine is an Open Access journal distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Koyama, Nobuyuki
Nagase, Terumasa
Kure, Masahiko
Odaka, Tomotada
Kogure, Koichiro
Takeda, Yukihisa
Ishii, Tomoya
Narisawa, Kenichiro
Fujita, Tomoyuki
Fujimori, Minoru
Katsura, Yoshiya
Multiple Endocrine Neoplasia Type 1 with Functional Parathyroid Cysts
title Multiple Endocrine Neoplasia Type 1 with Functional Parathyroid Cysts
title_full Multiple Endocrine Neoplasia Type 1 with Functional Parathyroid Cysts
title_fullStr Multiple Endocrine Neoplasia Type 1 with Functional Parathyroid Cysts
title_full_unstemmed Multiple Endocrine Neoplasia Type 1 with Functional Parathyroid Cysts
title_short Multiple Endocrine Neoplasia Type 1 with Functional Parathyroid Cysts
title_sort multiple endocrine neoplasia type 1 with functional parathyroid cysts
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9107977/
https://www.ncbi.nlm.nih.gov/pubmed/34645755
http://dx.doi.org/10.2169/internalmedicine.7505-21
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